| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.100641198C>T | CA341994 | TFR2 | c.64G>A (p.Val22Ile) n.69G>A n.222G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.100641198C= | CA2832592545 | TFR2 | c.64G= (p.Val22=) n.69G= n.222G= | dbSNP |
| 7 | g.100641198C>G | CA368538617 | TFR2 | c.64G>C (p.Val22Leu) n.69G>C n.222G>C | dbSNP gnomAD v4 |